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High Risk and Anomalies > Ch 53 WB > Flashcards

Ch 53 WB Flashcards

1
Q

A major congenital anomaly is found in _______ of every 100 births, and an additional 10% to 15% of births are complicated by minor birth defect

A

3

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2
Q

An ultrasound-directed biopsy of the placenta or chorionic villa (chorion frondosum) is _______.

A

CVS

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3
Q

A specialized prenatal test that permits direct viewing of the developing embryo using a transcervical endoscope inserted into the extracoelomic cavity during the first trimester of pregnancy is _______.

A

embryoscopy

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4
Q

The technique first used to relieve poly, to predict RH isoimmunizatoion, and to document fetal lung maturity is _______.

A

aminocentesis

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5
Q

Another method in which chromosomes are analyzes is _______.

A

cordocentesis

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6
Q

The amniocentesis tecnhique for multiple gestation is similar to the singleton method, except that _______ fetal sac is entered.

A

each

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7
Q

The major protein in fetal serum that is also produced by the yolk sac in early gestation and later by the fetal liver is _______.

A

alpha-feta protein

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8
Q

AFP is transported into the _______ by fetal urination and reaches maternal circulation or blood through the fetal membranes.

A

amniotic fluid

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9
Q

Common reasons for high AFP levels are _______, such as anencephaly and open spina bifida.

A

neral tube defects

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10
Q

Two common abd wall defects, _______ and _______, produce elevations of AFP.

A

omphalocele, gastroschisis

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11
Q

It is expected that the AFP level in a twin pregnancy will be _______ that of a singleton pregnancy.

A

twice

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12
Q

The quadruple screen was formerly known as the triple test to triple screen; this biochemical screening test combined three serum markers: _______, _______ and _______, plus another maternal serum markers, dimeric inhibin..

A

AFP, HcG, estroil

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13
Q

A normal karyotype consists of _______ chromosomes, _______ pairs of autosomes, and a pair of sex chromosomes.

A

46, 23

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14
Q

An abnormality of the number of chromosomes is _______.

A

aneuploidy

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15
Q

One of the most common aneuplid conditions is _______syndrome, in which an individual has an extra chromosome number 21.

A

Downs

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16
Q

An inherited dominant disorder carriers a _______% chance that each time pregnancy occurs, the fetus will have the condition.

A

50

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17
Q

A recessive disorder is caused by a pair of defective genes, one inherited from each parent. With each pregnancy, the parents have a _______% chance of having a fetus with the disorder.

A

25

18
Q

X-linked disorders are inherited by _______ from their mothers.

A

boys

19
Q

Each of the _______ of the female carriers of Xlinked disorders has a 50% chance of being affected, and each of the _______ has a 50% chance of being a carrier.

A

sons, daughters

20
Q

An abnormal even that arises because of the interaction of one or more genes and environmental factors is a _______ condition.

A

multifactoral

21
Q

The occurrence of a gene mutation or chromosomal abnormality in a portion of an individuals cells is _______

A

mocasism

22
Q

An abnormal fluid colection behind the fetal neck has been strongly assocaited with _______.

A

aneuploidy

23
Q

A nuchal translucency of _______ mm or greater has been used to define an abnormal thickness.

A

3

24
Q

The translucency should be oriented perpendicular to the ultrasound beam, and the measurement should be taken from the inside of the fetal _______ to inside the _______ membrane.

A

neck, nuchal

25
Q

A measurement of _______ mm increases the risk of aneuploidy four times, and nuchal translucencies of _______ mm and greater carry and even greater risk.

A

3, 4

26
Q

List the anomlies associated with Down’s Syndrome

A 
Absent nasal bones (hypoplastic nose)
Brachycephaly
Clinodactyly
Duodenal atresia
Echogenic intracardiac focus
Hyperechoic bowel
Macroglossia
Mild hydrocephalus
Nuchal thickening >/= 6mm between 16 and 20 weeks
Thickened nuchal translucency
Pericardial effusion
Pyelectasis
Sandal gap
Shortened limb
VSD’s
Widened pelvic angles
27
Q

List the anomlies associated with 18

A 
Strawberry shaped skull
Agenesis of the corpus callosum
Choroid plexus cyst
Hypoplastic cerebellum
Enlarged cisterna magna
Micrognathia
Small, low-set ears
Esophageal atresia
Spina bifida
Clenched hands, overlapping index finger, fixed wrists
Cardiac defects
Omphalocele
Diaphragmatic hernia
Renal anomalies
Single umbilical artery
Feet abnormalities
28
Q

List the anomlies associated with 13

A 
Microcephaly 
Polydactyly 
Holoprosencephaly
Ventriculomegaly 
Agenesis of the corpus callosum
Small, low set ears
Facial anomalies(cyclopia, cleft lip, cleft palate)
Cardiac defects
Omphalocele 
Renal anomalies
Single umbilical artery 
Clubfeet
29
Q

List the anomlies associated with troploidy

A 
Holoprosencephaly
Dandy-Walker malformation
Agenesis of the corpus callosum
Hydrocephalus
Facial abnormalites (microphtalmia and micrognathia
Small, low set ears
Cardiac defects
Renal anomalies
IUGR
Omphalocele
Single umbilical artery
Syndactyly (third and fourth fingers
Clubfeet
30
Q

A genetic abnormality marked by absence of the X or Y chromosomes is ________.

A

Turner’s

31
Q

The most pathognomic finding for the above disorder is __________, Other physical features incluide cardiac anomlies, which are commonly present, with _______ being the most common.

A

Cystic hygroma, coartation of aorta

32
Q

Alpha-fetoprotein

A

protein manufactured by the fetus, which can be studied in amniotic fluid and maternal serum

33
Q

amniocentesis

A

transabdominal removal of amniotic fluid from the amniotic cavity using ultrasound

34
Q

cystic hygroma

A

dilation of jugular lymph sacs caused by improper drainage of the lymphatic system into the venous system

35
Q

hypertelorism

A

Abnormally wide-spaced orbits usually found in conjunction with congenital anomalies and mental retardation

36
Q

hypoplasia

A

underdevelopment of a tissue, organ or body

37
Q

hypotelorism

A

abnormally closely spaced orbits; associated with holoprosencephaly, chromosomal and CNS, and cleft palate

38
Q

IUGR

A

decreased rate of fetal growth, usually fetal weight below the 10th percentile for a given gestational age

39
Q

micrognathia

A

abnormally small chin; commonly associated with other fetal anomalies

40
Q

omphalocele

A

anterior abd wall defect in which abd organs are atypically located within the umbilical cord; highly associated with cardiac, CNS, renal, and chromomal anomalies

41
Q

TORCH

A

TOxoplasmosis
Rubella
Cytomegalovirus
Herpesvirus type 2

High Risk and Anomalies (4 decks)

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